Speaker Bios
Kellan Weston earned her Ph.D. in Molecular and Cell biology from Washington University in St. Louis in 2024. There, she identified gain of function variants in UBE3A, the causative gene of the rare neurodevelopmental disorder, Angelman syndrome. Now, she is a postdoctoral fellow at COMBINEDBrain, where she focuses on drug repurposing and observational studies.
Anna C. Pfalzer, Ph.D. is a Research Assistant Professor of Neurology at Vanderbilt University Medical Center and Chief Scientific Officer at COMBINEDBrain. Her research focuses on identifying early biomarkers of neurodevelopmental and neurodegenerative disorders, with an emphasis on rare, genetic conditions. Dr. Pfalzer holds a Ph.D. in Biochemistry from Tufts University and completed post-doctoral fellowships in neuroscience and pediatric neurology at Vanderbilt.
Her early work examined cognitive and molecular changes in children at risk for Huntington’s Disease, identifying plasma-based biomarkers that appear decades before clinical onset. This led to her broader interest in shared proteomic and metabolomic signatures across neurodevelopmental disorders. She now leads biomarker discovery efforts involving multi-omics analyses across more than 35 rare conditions, collaborating closely with patient advocacy groups and pharmaceutical partners.
Rodney Samaco, PhD is the Founder and Principal for Rare Collective Strategies, a new venture focused on deploying meaningful solutions and actionable strategies to enhance capacity and expertise of stakeholders engaged in rare genetic spaces including monogenic NDDs/DEEs.
During Rodney's previous academic roles (Assistant Professor, Baylor College of Medicine and Texas Children’s Hospital; Co-Director of the Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center), he directed a research portfolio centered on optimizing the framework for preclinical readiness of rare genetic NDD/DEE animal models with a primary focus on X-linked and genomic imprinting disorders. Leveraging basic science findings to drive the proof-of-concept development of genetic-based interventions, he has and continues to work with several patient and research focused Foundations in this capacity.
Rodney also previously served in the role of Chief Strategy and Business Development Officer of the Association of University Centers on Disabilities, a non-profit membership organization of 143 federally-funded University-based Centers and Programs focused on disability research, education, service, advocacy and policy.
Jennifer Bain, MD, PhD, is an Associate Professor of Neurology and Pediatrics at the Columbia University Medical Center. Dr. Bain completed both an MD and PhD, as well as general pediatrics residency at Rutgers – New Jersey Medical School in New Jersey. She then trained in Child Neurology at NewYork-Presbyterian/Columbia University Irving Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy and neurodevelopmental disorders in addition to genetic disorders associated with such conditions.
Marissa Mitchel is a clinical research speech-language pathologist in the Department of Developmental Medicine at Geisinger. Her clinical specialty is augmentative and alternative communication for children with complex communication needs. Her research centers on the genetic architecture of pediatric motor speech disorders and the characterization of speech and language skills in children with rare genetic conditions. Marissa is also the president of NRXN1 Network, a nonprofit patient advocacy group for families affected by NRXN1 Deletion Syndrome.
Dr. Ludwig is a pediatric neuropsychologist at Kennedy Krieger Institute and an Assistant Professor of Psychiatry and Behavioral Sciences at The Johns Hopkins School of Medicine. She also serves as the Program Director of the Developmental Neuropsychology Phenotyping Unit (DNPU) at Kennedy Krieger Institute. Her clinical work is focused on serving individuals with genetic conditions associated with severe to profound neurodevelopmental disabilities. Dr. Ludwig’s research is focused on neurodevelopmental phenotyping and patient-focused outcome measure development for clinical trial readiness.
Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental conditions, birth defects including congenital diaphragmatic hernia and congenital heart disease. She has led studies to improve newborn screening including GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). She is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders and is a member of the National Academy of Medicine.
Her early work examined cognitive and molecular changes in children at risk for Huntington’s Disease, identifying plasma-based biomarkers that appear decades before clinical onset. This led to her broader interest in shared proteomic and metabolomic signatures across neurodevelopmental disorders. She now leads biomarker discovery efforts involving multi-omics analyses across more than 35 rare conditions, collaborating closely with patient advocacy groups and pharmaceutical partners.
Dr. Ramin Eskandari is an Associate Professor and Chief of Pediatric Neurosurgery at the Medical University of South Carolina (MUSC), with adjunct appointments in Pediatrics, Surgery, and Microbiology/Immunology. A native of Ann Arbor, Michigan, he earned his B.S. in Biology/Neurobiology from the University of Michigan, followed by international research and medical training, including a master’s in medical science with work in artificial vision and hydrocephalus.
Dr. Eskandari specializes in minimally invasive neurosurgical techniques for children with complex brain and spine disorders. In 2014, he established South Carolina’s first pediatric hydrocephalus and brain injury research lab and has since led pioneering work on elevated intracranial pressure and therapeutic interventions for neonatal brain injury.
Most recently, he launched a novel CNS tissue and CSF biobanking initiative—transforming otherwise discarded surgical material into a critical research resource. This IRB-approved platform enables native-state sample preservation and has sparked industry and institutional interest for collaboration and investigation towards making therapeutic discovery much quicker
and safer.
Drew H. Scoles, M.D., Ph.D. is a pediatric and adult retina specialist and assistant professor of ophthalmology at the Children’s Hospital of Philadelphia and the University of Pennsylvania in Philadelphia, Pennsylvania. His clinical expertise includes medical and surgical treatment of retinal disorders in patients from birth through 100+ years. He has a strong interest in improving the understanding and treatment of pediatric vitreoretinopathies through clinical research.
Dr. Scoles received his B.S. and Ph.D in biomedical engineering at the University of Rochester followed by his M.D. at the University of Rochester. He completed ophthalmology residency training at the University of Pennsylvania, followed by vitreoretinal surgery fellowship at Associated Retinal Consultants in Royal Oak, Michigan. He is a board-certified ophthalmologist.
Dr. Mohammad Moshahid Khan is an Associate Professor in the Department of Neurology at the University of Tennessee Health Science Center, Memphis TN. He is a neuroscientist with over a decade of experience investigating the molecular mechanisms underlying neurodegenerative diseases, including Alzheimer’s and Parkinson’s disease. His research spans DNA damage and repair, neuroimmune signaling, and the identification of early pathogenic triggers using multidisciplinary approaches.
Recently, Dr. Khan’s work has expanded to explore gut-brain axis interactions, with a particular focus on the gut microbiome’s role in rare genetic neurological disorders such as dystonia and CTNNB1 syndrome. He is currently supported by a newly funded Department of Defense grant to study microbiome contributions to dystonia pathophysiology. Dr. Khan has been continuously funded by the NIH, DOD, and foundations, and has authored over 60 peer-reviewed publications.
His work has been cited more than 6,000 times (h-index: 41). He serves on multiple editorial boards, reviews for major neuroscience funding agencies, and contributes as an ad hoc member of NIH and DOD study sections. He has served as an invited speaker at several national and international conferences, sharing his expertise in neurodegeneration and neuroimmune interactions. At UTHSC, he leads a research program focused on discovering novel therapeutic strategies for incurable neurological disorders and actively mentors undergraduate students, graduate trainees, and postdoctoral fellows.
Dr. Michele Jacob’s research career has focused on defining molecular mechanisms that direct synaptic differentiation and function in healthy and disease states. Her studies have identified new mechanisms responsible for synaptic dysfunction in intellectual disabilities, autism, seizures, and reduced hearing. Her recent research efforts center on CTNNB1/β-catenin, a high-confidence risk gene for intellectual disabilities and autism. Her research team has developed mouse models with dysregulation of this pathway in brain neurons and has multiple publications defining novel molecular and functional changes that can lead to seizures, autism relevant behaviors and learning deficits of varying severities.
Her current work focuses on CTNNB1 syndrome, using preclinical mouse and human cell models, including several CTNNB1 syndrome patient derived cell lines harboring distinct mutations that span the gene. Her team’s findings have identified novel molecular, functional, and structural changes in the brain and spinal cord. Importantly, the team has identified two prodrugs as efficacious, therapeutic treatments with potential to provide significant beneficial outcomes in CTNNB1 syndrome individuals.
Dr. Jacob’s two new publications detail small molecule and RNA-based therapeutic approaches that significantly improve CTNNB1 syndrome phenotypes in the mouse and patient cell models. Her preclinical work is being advanced by important collaborations, including a research agreement with NIH NCATS-TDB (National Center for Translational Science- Therapeutic Development Branch) and the Harrington Discovery Institute, as she is the recipient of a prestigious Oxford Harrington Rare Disease Scholar Award. She is a lead researcher for CTNNB1 Connect and Cure, Inc., and serves on the Scientific Advisory Board of CTNNB1 Italia.
Jeff Coller holds the esteemed position of Bloomberg Distinguished Professor of RNA Biology and Therapeutics at Johns Hopkins University. With over three decades dedicated to RNA and mRNA biology, his research has been pioneering, focusing notably on messenger RNA stability and translation. Dr. Coller earned his Ph.D. in Cellular and Molecular Biology from the University of Wisconsin and conducted postdoctoral research at the Howard Hughes Medical Institute at the University of Arizona.
Before joining Johns Hopkins, Dr. Coller directed the RNA Center at Case Western Reserve University, where he also held the Henry Willson Payne Distinguished Professorship. His research delves into the core of life itself—the translation of the genetic code. His groundbreaking discoveries have reshaped understanding of gene expression, revealing that the genetic code profoundly influences mRNA fate. Notably, his lab's findings played a role in the development of COVID-19 vaccines, including development of SPIKEVAX, where his graduate student contributed significantly to its design based on his thesis work.
Beyond academia, Dr. Coller is a Co-founder of Tevard Biosciences, recognized in 2018 with Pfizer’s Golden Ticket award for its promising neuroscience innovations. Moreover he is a founding member of the Alliance for mRNA Medicines and serves on their Board of Directors. Lastly he sits on multiple Scientific Advisory Boards, including the Society for RNA Therapeutics and the SYNGAP Research Fund. His contributions extend to over 6000 citations in scientific literature and multiple patents in the realm of RNA-based therapeutic applications.
Clement Chow is an Associate Professor in the Department of Human Genetics at the University of Utah School of Medicine. Clement received his BA from Cornell University in 2003 and completed his Ph.D. in 2008 in the Department of Human Genetics at the University of Michigan. Clement completed his postdoctoral training at Cornell University. He has always had a passion for helping to advance therapies for rare diseases.
Špela Miroševič is the founding president of the CTNNB1 Foundation, a non-profit organization dedicated to developing a gene therapy for CTNNB1 Syndrome. With a PhD in Biomedicine and a background in cancer and public health research, Špela pivoted to rare diseases after her son’s diagnosis in 2020. She has since led a multidisciplinary team, raised over $4 million, secured a global gene therapy license, and initiated the first clinical translation of an AAV9-based CTNNB1 gene therapy. Špela is also known for her impactful advocacy, she successfully advocated for a change in Slovenian law to support early-stage gene therapies and has received several awards. Špela frequently speaks at international conferences, publishes scientific work, and contributes to improving care for CTNNB1 patients.
Matthew Fuller is Vice President – Head of Gene Therapy Research at Ultragenyx, leading execution of program and platform research to continually optimize and invest in Ultragenyx’s gene therapy platforms and programs. Matthew also serves on the FNIH Bespoke Gene Therapy Consortium, as a member of the scientific advisory board for the Coalition to Cure CHD2, as a member of the scientific advisory board for the Myhre Syndrome Foundation, as a member of the scientific advisory board for IDefine, and as chief scientific advisor for the Cohen Syndrome Research Foundation. Matthew received a PhD from the University of Missouri – Columbia and a MSPH from Tulane University.
Michelle Seaver is a Marriage and Family Therapist, who focuses on cultivating emotional balance and stronger relationships. She began her work in corporate psychology and has participated in the largest longitudinal study to date on meditation. Inspired by the many benefits of meditation, she now teaches practical tools to support mental health.
Mindfulness can be especially helpful for children with rare diseases and their families, reducing stress, improving focus and well-being, and strengthening connection in daily life.
Mary Frances Garber is a board certified, licensed genetic counselor who earned her B.S. in Molecular Genetics from the University of Rochester and her M.S. in Human Genetics from Sarah Lawrence College. Having worked for many years in a high-risk obstetrical setting in the Antenatal Diagnostic Center at Brigham and Women's Hospital and at Newton Wellesley Hospital, she gained extensive counseling experience. She has worked with many families having various genetic, chromosomal or developmental conditions. In addition to this experience in high risk obstetrics, Mary-Frances worked as a consultant for Genome Medical primarily seeing patients to evaluate their risks for hereditary cancer testing and other adult conditions, allowing her to offer support to those with hereditary cancer syndromes and those contemplating testing for a variety of issues.
Emily Amerson is the current President of CTNNB1 Connect & Cure. She and her husband, Cody, live in Charleston, SC, with their two daughters, Savannah and Nora. When Savannah was diagnosed with CTNNB1 syndrome in 2022, Emily immediately got involved by organizing a fundraiser and managing CCC’s social media. She became increasingly active in the operations of the organization, and was appointed President at the end of 2023. Previous to this role, she taught high school math and founded an online math tutoring business. Emily holds bachelor’s degrees in Mathematical Science and Secondary Education from Clemson University as well as a Master’s in Mathematical Sciences.